A case of thyroid hormone resistance: Prospective follow-up during pregnancy and obstetric outcome

Massaad, Dany; Poppe, Kris; Lissens, Willy; Velkeniers, Brigitte

doi:10.1016/j.ejim.2006.09.030

Cited by 8 publications

(3 citation statements)

References 8 publications

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“…In fact, the same mutation can cause either generalized RTH or pituitary RTH in different individuals within the same family. For example, a boy who had slight attention-deficit hyperactivity disorder and the R243W mutation was born to a mother who remained clinically euthyroid with the same mutation [8]. Additionally, only a weak correlation has been observed between a given mutation and the development of RTH [1,3,9].…”

Section: Discussionmentioning

confidence: 99%

A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report

et al. 2012

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IntroductionResistance to thyroid hormone is a syndrome caused by thyroid hormone receptor β mutations, which are usually inherited in an autosomal-dominant pattern.Case presentationOur patient, a Japanese neonate boy, showed hyperthyroid symptoms at age two days. Although our patient was diagnosed as having resistance to thyroid hormone, his hyperthyroid symptoms continued for two weeks. Therefore, our patient was treated with methimazole and iodine for two weeks from birth, showing no side effects and no symptoms upon treatment. At age 70 days, an R243W mutation in thyroid hormone receptor β was detected in our patient; while absent in his mother, the mutation was present in his father, who never showed any symptoms.ConclusionsTo the best of our knowledge this is the first case report of a resistance to thyroid hormone in a neonate presenting with hyperthyroid symptoms born to a mother with Graves’ disease and treated with methimazole and iodine. These results suggest that methimazole and iodine may be a good short-term option for treatment.

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Section: Discussionmentioning

confidence: 99%

A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report

et al. 2012

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“…In total, 85% of RTH cases are caused by mutations in the THRβ gene (2,5). RTH is an autosomal dominant heredity disease, with recessive heredity being less common (6). Gene sequencing is the gold standard for diagnosing RTH.…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report

Wang

2019

Mol Med Report

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Thyroid hormone resistance syndrome is a rare disease in which the level of thyroid hormone is elevated and the level of thyroid stimulating hormone is not suppressed. Mutations in the thyroid hormone receptor β (THRβ) gene are thought to be the primary cause of pathogenesis. In the present study, a Chinese boy of 4 years and 8 months, who had been pre-diagnosed with resistance to thyroid hormone, was assessed for mutations. The clinical features and thyroid function of the proband and his parents were collected and gene mutations were analyzed using DNA sequencing. Gene sequencing showed that the THRβ genes in the parents of the proband were consistent with the standard sequence, however, in the proband there was a mutation in the tenth exon of the THRβ gene (c. 824 T>C). This is a newly identified mutation site and, to the best of our knowledge, there have been no previous reports of this mutation site. Therefore, it is hypothesized that this mutation is the cause of the pathology in the proband.

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“…Low levels of T4 stimulate the release of more TSH via negative feedback on the hypothalamic-pituitary axis. Thyroid function is critical for optimal reproductive function in women, and thyroid disease may negatively affect ovulation, menstrual function, and pregnancy success ( 2 , 3 ). Because of the strong inverse log-linear relationship between serum TSH and serum-free T4, serum TSH levels are generally regarded as a reliable measure to indicate thyroid function and abnormalities and are routinely screened in women with infertility ( 4 , 5 , 6 ).…”

mentioning

confidence: 99%

Positive effects of thyroid replacement therapy on assisted reproductive technology outcomes in women with subclinical hypothyroidism with positive thyroid peroxidase autoantibodies

Arora

Collazo²,

Palmerola³

et al. 2022

F&S Reports

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A case of thyroid hormone resistance: Prospective follow-up during pregnancy and obstetric outcome

Cited by 8 publications

References 8 publications

A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report

A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report

Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report

Positive effects of thyroid replacement therapy on assisted reproductive technology outcomes in women with subclinical hypothyroidism with positive thyroid peroxidase autoantibodies

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